Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.K114*
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UBA52

NM_001033930.3:p.K114*

Associated Papers

Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.

Franz TM et al.

Neurologia I Neurochirurgia Polska, 2025

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants.

Ma KY et al.

Npj Parkinson's Disease, 2021

34893635 (PubMed )
Supplement: 41531_2021_258_MOESM1_ESM.pdf

Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease.

Moura KC et al.

Disease Markers, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."